http://www.pnas.org/content/109/35/14087.abstract
Allusion to whole genome data, but focus is on coding regions & mitochondrial mutations
Posts Tagged ‘#genomics’
Spectrum of somatic mitochondrial mutations in five cancers
October 19, 2012First WGS of multiple pancreatic cancer patients outlined in study by TGen, Mayo and SHC | Science Codex
October 14, 2012Observation of dually decoded regions of the human genome using ribosome profiling data Genome Res. 2012
October 8, 2012Exome sequencing and the genetic basis of complex traits
September 30, 2012Figure 1 in a recent Nature Genetics paper useful for LOF — saturation of LoF, essentially something that describes how many LoF variants we see as we keep adding more samples :
http://www.nature.com/ng/journal/v44/n6/full/ng.2303.html
QT:”
Basically, LoF variants are so enriched for ultra-rare variants that they show no sign of saturation, and the catalogue will continue to grow as more and more exomes are sequenced.
“
Knome Launches knoSYS 100 Genome Supercomputer to Enhance Interpretation
September 29, 2012Dissecting the genomic complexity underlying medulloblastoma : Nature : Nature Publishing Group
September 26, 2012http://www.nature.com/nature/journal/v488/n7409/full/nature11284.html
Appears there’s germline variant calls (from JK) for potentially ~125 matched pairs
A brief history of the human genome – life – 17 September 2012 – New Scientist
September 26, 2012http://www.newscientist.com/article/mg21528826.200-a-brief-history-of-the-human-genome.html
mitochondria as the answer to a SA-to-Vol energy production puzzle introns as the remnants of self-splicing transposons from mitochondria
The onion test !
September 9, 2012http://www.genomicron.evolverzone.com/2007/04/onion-test/
QT:”
The onion test is a simple reality check for anyone who thinks they have come up with a universal function for non-coding DNA1. Whatever your proposed function, ask yourself this question: Can I explain why an onion needs about five times more non-coding DNA for this function than a human? The onion, Allium cepa, is a diploid (2n = 16) plant with a haploid genome size of about 17 pg. Human, Homo sapiens, is a diploid (2n = 46) animal with a haploid genome size of about 3.5 pg. “
Article: Correction algorithms extend the reach of genome sequencing : Nature News & Comment
August 27, 2012http://www.nature.com/news/correction-algorithms-extend-the-reach-of-genome-sequencing-1.10924
combining technologies for better reconstruction
Lucky you! Accidents of evolution that made us human – New Scientist
August 27, 2012http://www.newscientist.com/special/accidents-human-evolution
Genes with well-known mutations betw. humans & chimps :
MYH16 for bigger skulls, SRGAP2 & HAR1 for bigger brains, foxp2 for language, amylase for diet change
